Clinical characterization of Parkinson’s disease patients with LRRK2 mutation: Insights from a Portuguese reference center
Objective: This study aims to provide a clinical characterization of Parkinson's disease (PD) patients with LRRK2 mutations, who are being treated at a Portuguese reference…The Great Mimicker Strikes Again
Objective: Report the first case of hyperekplexia caused by neurosyphilis. Background: Hyperekplexia is an exaggerated startle reflex appreciated when auditory, tactile, or visual stimuli causes…Characterization of social cognition impairment in Huntington‘s disease
Objective: The aim of the present study is to characterize social cognition deficits in patients of Huntington’s disease (HD) from China and to assess associated factors. Background: Huntington’s…The contribution of Brain Bank for Aging Research to pathomechanism of Parkinson’s disease
Objective: Objective: The aim of this paper is to present the result of the whole body screening of Lewy body pathology by Brain Bank for…Mutation screening of PCDHGB1 variants in a large dystonia cohort
Objective: We aimed to systematically evaluate the genetic associations of PCDHGB1with dystonia in a large Chinese dystonia cohort. Background: Recently, PCDHGB1has been identified to be a novel causative…Reticulospinal tract integrity in patients with SCA12 having impairment of Corticospinal tract- a clinical and electrophysiological study
Objective: Estimate the Reticulospinal tract (RST) activity using StartReact paradigm in patients of SCA12 with clinical and electrophysiological evidence of compromised corticospinal tract (CST) integrity. Background: Spinocerebellar…Blood Pressure Monitoring in Multiple System Atrophy: Focused on Nocturnal Dipping Pattern
Objective: To depict 24 hour blood pressure profile, especially dipping patterns, in subjects with probable and clinically established multiple system atrophy (MSA). Background: Impairment of…Quasi tandem repeat in TCERG1 may influence age at onset of X-linked dystonia-parkinsonism
Objective: To investigate whether the hexamer repeat in the TCERG1 gene plays a role in modifying disease onset in X-linked dystonia-parkinsonism (XDP). Background: Recently, it…Education and the motor effects of dopamine loss in Parkinson’s disease
Objective: To examine the relation between education and dopamine signal loss in PD. Background: In support of the cognitive reserve concept, it has consistently been…New machine learning approaches in tic detection: Seeking to learn more about the characteristic of tics
Objective: To develop a machine learning tool to distinguish between facial/head tics in people with Tourette syndrome and spontaneous movements in healthy controls. Background: Distinguishing…
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